Submissions for variant NM_016111.4(TELO2):c.2367C>G (p.Asp789Glu)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002994327	SCV003297041	uncertain significance	not provided	2022-10-24	criteria provided, single submitter	clinical testing	In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TELO2 protein function. This variant has not been reported in the literature in individuals affected with TELO2-related conditions. This variant is present in population databases (rs531584946, gnomAD 0.2%). This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 789 of the TELO2 protein (p.Asp789Glu).
PreventionGenetics, part of Exact Sciences	RCV003906436	SCV004721745	likely benign	TELO2-related disorder	2023-06-08	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).